| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161307314C>G | CA257168 | MPZ | c.178G>C (p.Asp60His) c.-411G>C (n.-411G>C) n.241G>C c.208G>C (p.Asp70His) | ClinVar dbSNP |
| 1 | g.161307314C= | CA1141581164 | MPZ | c.178G= (p.Asp60=) c.-411G= (n.-411G=) n.241G= c.208G= (p.Asp70=) | dbSNP |
| 1 | g.161307314C>T | CA343350834 | MPZ | c.178G>A (p.Asp60Asn) c.-411G>A (n.-411G>A) n.241G>A c.208G>A (p.Asp70Asn) | ClinVar dbSNP |